Corneal infiltration was present at the level of epithelium and sub-epithelium [Figure 2]. [ijmr.org.in]

Variable degrees of a collodion membrane may be present in newborns. Psoriasiform plaques, angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis and atopic eczema can be present. The palms and soles are generally unaffected. [orpha.net]

Prahlad H (2017) Oral cavity squamous cell carcinoma in a case of ichthyosis follicularis, alopecia, and photophobia syndrome with chronic myeloid leukemia on long-term hydroxyurea: a rare presentation. [eprints.manipal.edu]

IFAP Svndrome. and Present Case Dermotrichic IFAP Present case .~ syndrome syndrome General Short stature, proportionate + + + Mental retardation + + + SeizuredEEG anomalies + + + Recurrent respiratory infections - Atopic manifestations - Photophobia [documents.tips]

He presented loss of eyelashes and eyebrows ( Figure 1A ). Under optical microscopy the hair presented trichorrhexis nodosa ( Figure 1B ). A skin biopsy showed hyperkeratosis with follicular plugging ( Figure 1C ). [scielo.br]

• Inflammation

  Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported. [orpha.net]

  Davis Tags: Statin drugs cholesterol undoctored wheat belly Source Type: blogs ConclusionThese results suggest that low PA is a significant partial mediator of the relationship between systemic low-grade inflammation and subsequent elevated depressive [medworm.com]

  Other cutaneous manifestations include psoriasiform plaques, angular cheilitis, periungual inflammation, hypohidrosis, and atopic eczema. Dystrophic nails are reported. Dental development is normal. [hindawi.com]

  Ocular Anterior Segment: Ocular inflammation: (iritis, uveitis) Conjunctivitis Corneal diseases (corneal neuropathy, interstitial keratitis) Blepharitis Bilateral acute iris transillumination defects of the iris Dry eyes Dry eyes: the MOST Common cause [glarminy.com]

  Adequate treatment of MGD helped in preventing the recurrent attacks of inflammation and scarring in our patient. [ijo.in]

• Recurrent Infection

  Recurrent infections are common. External genitalia are generally normal with a few cases of cryptorchidism and one with hypospadias. [orpha.net]

  History of photophobia and recurrent respiratory tract infection was present. The child was born of a nonconsanguineous marriage, full-term normal vaginal delivery and immunized till date. [ijtrichology.com]

  Recurrent infections are often noted in IFAP syndrome. External genitalia are almost always normal; few cases presented with cryptorchidism [3,14,16,17], and one with a hypospadias [17]. Dental development is normal. [ncbi.nlm.nih.gov]

  Case report An 18-month-old male child presented in the pediatric department with a history of dry skin, atrichia, global developmental delay, seizures, frequent regurgitations and recurrent respiratory tract infections since birth. [ijpd.in]

  infection of the upper airways, hypospadias, choanal stenosis, inguinal hernia and Hirschsprung disease; he lacked one kidney. [nature.com]

• Multiple Congenital Anomalies

  congenital anomaly disorder with variable severity. [mendelian.co]

  […] epiphyseal dysplasia 2 Micro syndrome Stiff skin syndrome Immunodeficiency with hyper IgM type 1 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Pachydermoperiostosis X-linked intellectual disability - short stature ‚Äì obesity Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus [checkrare.com]

• Cheilitis

  […] and some of the minor symptoms of IFAP, including severe photophobia, extensive non-inflammatory follicular hyperkeratosis, generalized non-scarring alopecia, hyperkeratosis of the extensor aspect of the four extremities, nail deformity and recurrent cheilitis [unboundmedicine.com]

  Other cutaneous manifestations include psoriasiform plaques, angular cheilitis, periungual inflammation, hypohidrosis, and atopic eczema. Dystrophic nails are reported. Dental development is normal. [hindawi.com]

  Psoriasiform plaques, angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis and atopic eczema can be present. The palms and soles are generally unaffected. [orpha.net]

  Note: A) the atrichia, the photophobia, the cheilitis around the mouth, B) the ichthyotic scaling and erythematous and yellowish thick scaly hyperkeratotic plaques over the scalp, and C) the psoriasiform plaques over the buttocks. [ncbi.nlm.nih.gov]

  Psoriasiform plaques, atopic manifestations, cheilitis, hypohidrosis, dystrophic nails, and inguinal hernia may possibly occur in up to 40% of patients. [ijtrichology.com]

• Heart Disease

  The aim of this study was to investigate the difference between LDL-CM and LDL-CC after a daily breakfast in Chinese patients with coronary heart disease (CHD).MethodsThree hundred and three inpatients, including 203 CHD patients (CHD group) and 100 non-CHD [medworm.com]

  disease  Migratory ICHTHYOSIFORM Dermatosis  Mental Retardation  Epilepsy 28. [de.slideshare.net]

  Avoid sudden or prolonged exposure to extreme temperatures in baths, wraps, saunas, or other forms of hydrotherapy, particularly with heart disease, lung disease, or if pregnant. [livingnaturally.com]

  […] polydactyly heart disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic paraplegia 25 Camptodactyly-ichthyosis syndrome BRCA1 hereditary breast and ovarian cancer syndrome Multicentric [checkrare.com]

• Hearing Impairment

  The clinical triad of progressive vascularizing keratitis, sensorineural hearing impairment, and skin manifestations (generalized or localized) are better classified as erythrokeratoderma than as ichthyosis. [1] Heterozygous missense mutations in the [idoj.in]

• Visual Impairment

  “Traumatic brain injury and visual disorders: What every Ophthalmologist should know.” Eyenet Magazine. Mar. 2014. Tyrosinemia (2008, January). National Institutes of Health Genetics Home Reference. [theraspecs.com]

• Visual Impairment

  “Traumatic brain injury and visual disorders: What every Ophthalmologist should know.” Eyenet Magazine. Mar. 2014. Tyrosinemia (2008, January). National Institutes of Health Genetics Home Reference. [theraspecs.com]

• Follicular Hyperkeratosis

  They have had almost all the classical and some of the minor symptoms of IFAP, including severe photophobia, extensive non-inflammatory follicular hyperkeratosis, generalized non-scarring alopecia, hyperkeratosis of the extensor aspect of the four extremities [unboundmedicine.com]

  NM_015884.3:c.1499G>A Hemizygous X-linked, Recessive Bornholdt et al. 2013 Sibling of 308205.2.... 308205.3 Algeria Male Follicular hyperkeratosis; Congenital al... [cags.org.ae]

  He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Short stature and psychomotor developmental delay were also noticed. [repositorio.hospitaldebraga.pt]

  Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been noted in some patients. Intensive lubrication of the ocular surface is essential. [paperity.org]

• Papule

  Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (OMIM 308205) is an extremely rare X-linked oculocutaneous genetic disorder characterized by follicular keratotic papules, total to subtotal alopecia, and photophobia. [keio.pure.elsevier.com]

  His skin was of a sand paper texture with spiny follicular papules over the face [Figure - 1], arms, back and limbs. [ijdvl.com]

  Lower limb photograph showing dyskeratotic papules (arrow) more pronounced over extensor extremities and distributed symmetrically with sparing of soles. (B). [ijmr.org.in]

  Figure 2: Spiny papules seen distributed throughout the back and gluteal region Click here to view Figure 4: Histopathology of the spiny papules suggestive of keratosis pilaris Click here to view The IFAP syndrome is a rare genetic disorder characterized [ijtrichology.com]

  Case Report Abstract Author Information Authors Article Metrics Metrics Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (OMIM 308205) is an extremely rare X-linked oculocutaneous genetic disorder characterized by follicular keratotic papules [journals.lww.com]

• Eczema

  A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. [repositorio.hospitaldebraga.pt]

  Other cutaneous manifestations include psoriasiform plaques, angular cheilitis, periungual inflammation, hypohidrosis, and atopic eczema. Dystrophic nails are reported. Dental development is normal. [hindawi.com]

  Psoriasiform plaques, angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis and atopic eczema can be present. The palms and soles are generally unaffected. [orpha.net]

  Scaling skin Inflammatory abnormality of the skin Splenomegaly Erythema Edema Seizures Milia Autosomal dominant inheritance Immunodeficiency Abnormality of the nail Growth delay Alopecia Failure to thrive Hyperhidrosis Parakeratosis Heat intolerance Eczema [mendelian.co]

• Anhidrosis

   Leathery verrucous plaques  Nails may be dystrophic  Eye brows and eye lashes absent  Partial anhidrosis  Hypotrichosis  A/w Mucocutaneous candidiasis. 26.  Cong Hemidysplasia  Ichthyosiform erythroderma  Limb defects  Present at birth,females [de.slideshare.net]

• Decreased Sweating

  Case Report A 21 year old man born of consanguineous parents presented with recurrent redness, irritation in both eyes (BE), photophobia, decreased sweating since many years, alopecia totalis and ichthyosis of scalp, flexor and extensor surfaces of forearm [urbanedge.co.in]

• Frontal Bossing

  The face was characterized by prominent frontal bossing and large ears. Skin was erythematous with scaling and generalized atrichia (Fig. 2). Hypohydrosis, itching, and photophobia were also present. [documents.tips]

  In a few cases, mild to severe intellectual disability, short stature, microcephaly, seizures, dysmorphic features (frontal bossing, choanal atresia, large ears), cleft hands, intestinal anomalies (omphalocele, Hirschsprung disease or congenital aganglionic [orpha.net]

  Intellectual disability, hypotonia, seizures, short stature, frontal bossing, choanal atresia, large ears, recurrent infections, and intestinal anomalies may also be present. [3] The histopathology of this patient showed that hyperkeratosis, acanthosis [ijtrichology.com]

  Miscellaneous Other clinical features associated with IFAP syndrome consist of short stature, dysmorphic features such as frontal bossing, choanal atresia, and large ears. [ncbi.nlm.nih.gov]

  bossing, large ears, choanal atresia, recurrent infections and intestinal anomalies may be other findings. [1] Neurological features consist of olivo-cerebellar atrophy, malformation of the temporal lobes, mild inner cerebral atrophy, pseudobulbar paresis [ijpd.in]

• Cryptorchidism

  Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Ichthyosis Follicularis, Atrichia, and Photophobia with or without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism [cags.org.ae]

  External genitalia are generally normal with a few cases of cryptorchidism and one with hypospadias. [orpha.net]

  In some patients the skin, hair and corneal disease is accompanied by severe internal anomalies such as kidney dysplasia, brain anomalies and mental retardation, Hirschsprung disease, cleft palate, external ear malformations, cryptorchidism, and skeletal [disorders.eyes.arizona.edu]

  Although he has neurological abnormalities, such as retarded psychomotor development and seizures, he does not have bone or visceral anomalies, except cryptorchidism. [nature.com]

  Although he has neurological abnormalities, such as retarded psychomotor development and seizures, he does not have Bone or visceral anomalies, except cryptorchidism [9]. [gulfdoctor.net]

• Seizure

  Photophobia and generalized myoclonicastatic seizures began during or after the first year of age and were associated with progressive impairment of motor skills and mental abilities. He died at 33 years of age. [wwww.unboundmedicine.com]

  By 1 year of age, he experienced a brief generalized tonic–clonic seizure with high fever. Later myoclonic seizures appeared without fever. [nature.com]

  He was also started on sodium valproate 20 mg/kg/day with cessation of seizures. Isotretinoin was withdrawn as his skin texture improved. [ijpd.in]

  Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections. [2] Genetics Most cases are X-linked recessive but there may be as many as three types. [ipfs.io]

  Patient Management General complications like seizures must be treated accordingly. Sunglasses may certainly help with the light sensitivity. [dermatologyadvisor.com]

• Nystagmus

  Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported. [orpha.net]

  The ocular findings are photophobia, corneal scars, punctate keratopathy, corneal erosion, allergic keratoconjunctivitis, superficial and deep corneal neovascularization, horizontal nystagmus, and myopia (1,5-6). [scielo.br]

  The ocular features that have been reported up till now are punctate keratopathy, erosion, corneal scarring, atopic keratoconjunctival inflammation, horizontal nystagmus, myopia and absence of eyebrows and eyelashes. [3] The presence of MGD as the cause [ijo.in]

  However, addi- tional anomalies were described such as micro- phthalmia, lens opacities, nystagmus, swollen eyelids with blepharospasm, and narrow forehead with hyper- telorism, which were absent in our patient. [documents.tips]

• Convulsions

  Bartalos and SaraCli [19681 reported on a patient with alopecia universalis, ichthyosis, mental retardation, convulsions (in hot weather), photophobia, recurrent in- fections, and possible X-linked recessive inheritance Fig. 5. [documents.tips]

  […] neurocutaneous Mucopolysaccharidosis type IIIC Macrozoospermia Ichthyosis prematurity syndrome Chromosome 12p duplication Acro-pectoro-renal field defect Spinal muscular atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly type B Infantile convulsions [checkrare.com]

This eye had greater epithelium erosion and worse response to the previous treatment. [scielo.br]

Many chapters have been completely revised to reflect the latest treatment recommendations, procedures and therapeutic guidelines. [books.google.com]

Treatment Treatment Options: No effective treatment is known. References Article Title: MBTPS2 mutation causes BRESEK/BRESHECK syndrome Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N. [disorders.eyes.arizona.edu]

Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present. [ijo.in]

Prognosis Prognosis is variable. Some patients die in the neonatal period while others have normal life expectancy. However, in most patients, progressive loss of vision leads to loss of autonomy. [orpha.net]

However, the overall prognosis may depend upon the severity of the symptoms, the response to treatment, and severity of the associated condition (if any) The other types of keratosis pilaris include: Atrophoderma Vermiculata (or Folliculitis Ulerythematosa [dovemed.com]

Ichthyosis follicularis atrichia photophobia syndrome Home medical testing related to Ichthyosis follicularis-atrichia-photophobia syndrome: Concentration -- Home Testing ADHD -- Home Testing Mental Health: Home Testing: Home Emotional Stress Tests Prognosis [checkorphan.org]

Depending upon how extensive the organ involvement, the prognosis is usually guarded and patients may not live beyond early childhood. It is uncertain if IFAP refers to a single disorder or if two disorders are involved (see Genetics). [disorders.eyes.arizona.edu]

The prognosis of IFAP syndrome is variable. The cutaneous lesions improve with keratolytics, emollients and urea preparations. [ijdvl.com]

McKee's Pathology of the Skin is the most complete, in-depth resource on dermatopathology, covering etiology, pathogenesis, disease mechanisms, and recent genetic, molecular, and basic science data. Drs. J. [books.google.com]

Etiology The disorder is caused by mutations in the MBTPS2 gene (Xp22.12-p22.11) leading to impaired cholesterol homeostasis and response to endoplasmic reticulum stress. [orpha.net]

Etiology Pathophysiology IFAP syndrome is secondary to mutations in the MBTPS2 gene. Cholesterol homeostasis and ability to cope with endoplasmic reticulum stress is impaired because of a deficiency of MBT, an intramembrane zinc metalloprotease. [dermatologyadvisor.com]

Etiology IFAP syndrome results from missense mutations in the membrane-bound transcription factor protease site 2 (MBTPS2) gene [17]. [ncbi.nlm.nih.gov]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Summary Epidemiology Prevalence is unknown. Approximately 40 cases have been reported to date. IFAP primarily affects male subjects. Female carriers may develop some clinical features. [orpha.net]

Differential diagnoses are made with otherwise rare diseases and several clinical and epidemiological characteristics must be considered ( Table 1 ). [scielo.br]

Rated 0 Patient case no. 10991 Date added 03 June 2011 Patient details Age Child Location India Localisation Trunk / entire trunk Description Primary Lesions loss of hair from eyebrows(atrichia),ichthyosis follicularis all over body and photophobia Pathophysiology [dermquest.com]

Etiology Pathophysiology IFAP syndrome is secondary to mutations in the MBTPS2 gene. Cholesterol homeostasis and ability to cope with endoplasmic reticulum stress is impaired because of a deficiency of MBT, an intramembrane zinc metalloprotease. [dermatologyadvisor.com]

Pathophysiology Ichthyosis vulgaris is characterized by onset in early childhood, usually between age 3 and 12 months, with fine scales and varying degrees of dryness of the skin. [emedicine.medscape.com]

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul. 145(1):82-92. [Medline]. [emedicine.staging.medscape.com]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

This helps prevent dryness, scaling, cracking and build-up of skin. [crm.diseaseinfosearch.org]

Currently, there are no specific methods or guidelines to prevent Keratosis Follicularis Spinulosa Decalvans. [dovemed.com]

Prevention - Ichthyosis follicularis atrichia photophobia syndrome Not supplied. [checkorphan.org]